Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma
Moog, Ute × Engelen, John J M van Schrojenstein Lantman-de Valk, Henny M J Driessen, Sandra D Fryns, Jean-Pierre #
Clinical dysmorphology. vol:12 issue:1 pages:35-9
The association of moderate mental retardation, behavioural problems, macrocephaly, dysmorphic features with iris coloboma, and supernumerary nipples was observed in two brothers with a terminal deletion 4q33-->4qter and a terminal duplication 7q34-->7qter. The aberration was detected by subtelomere FISH screening and (probably) resulted from a cryptic familial translocation (4;7)(q33;q34).